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These genes are associated with an estimated lifetime risk of EOC of 13% to 60% for BRCA1 variants and 10% to 25% for BRCA2 variants, with lower risks associated with remaining genes. | genomic_alterations | {
"id": 672,
"name": "BRCA1",
"pos": [
84,
5
]
} | {
"id": "C0677886",
"name": "Epithelial ovarian cancer",
"pos": [
62,
3
]
} |
Conversely, this enzymatic activity is markedly reduced with purified PNPLA3 148M, a common mutation robustly associated with liver fibrosis and hepatocellular carcinoma development. | genomic_alterations | {
"id": 80339,
"name": "PNPLA3",
"pos": [
70,
6
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
145,
24
]
} |
Exons 5 to 8 of the p53 gene were examined for mutations in 60 patients with B-cell acute lymphoblastic leukemia (ALL), including 50 cases of precursor-B-cell ALL, nine cases of Burkitt (L3) ALL and one case of atypical ALL with surface immunoglobulins and t(8:14) translocation but L2 morphology. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
20,
8
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
265,
13
]
} |
However, recurrent driving mutations in the majority of patients with BRAF(V600E)-wild-type non-LCH are unknown, and recurrent cooperating mutations in non-MAP kinase pathways are undefined for the histiocytic neoplasms. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
70,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
210,
9
]
} |
Presently, we investigated the subcellular localization and effects of seizures on isoforms of 14-3-3 in rat hippocampus, and contrasted these to findings in human temporal lobe epilepsy (TLE). | NA | {
"id": 10971,
"name": "YWHAQ",
"pos": [
95,
6
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
71,
8
]
} |
Modification of both UCH-L1 activity and levels could be a new therapeutic avenue to podocyte hypertrophy in MGN. | NA | {
"id": 7345,
"name": "UCHL1",
"pos": [
21,
6
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
94,
11
]
} |
The Arg and Pro variants in p53 codon 72 were shown to have different regulation properties of p53-dependent DNA repair target genes that can affect various levels of cytogenetic aberrations in chronic hepatitis B patients. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
95,
3
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
167,
23
]
} |
In this study, we investigated the methylation status of the CpG island of SALL4 promoter region in myelodysplastic syndrome (MDS) using methylation-specific PCR (MSP). | NA | {
"id": 89782,
"name": "LMLN",
"pos": [
163,
3
]
} | {
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
100,
24
]
} |
At the smaller interface, differences in interaction show that the alpha1-beta2 loop of A1 serves as a conformational switch, alternating between an open alpha1-beta2 isomer that allows faster dissociation of GpIbalpha-A1, as observed in the wild-type complex, and an extended isomer that favors tight association as seen in the complex containing A1 with a type 2B von Willebrand Disease (VWD) mutation associated with spontaneous binding to GpIbalpha. | NA | {
"id": 4760,
"name": "NEUROD1",
"pos": [
161,
5
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
193,
12
]
} |
No significant association between SIRT1 gene and methamphetamine-induced psychosis in the Japanese population. | NA | {
"id": 23411,
"name": "SIRT1",
"pos": [
35,
10
]
} | {
"id": "C0033975",
"name": "Psychotic Disorders",
"pos": [
74,
9
]
} |
Since poly Q is not encoded by a perfect CAG repeat, the heterozygous polymorphic alleles need to be resolved, to understand the exact DNA sequences encoding poly Q. Poly Q encoding sequences of AIB1 from 107 DNA samples, including breast cancer cell lines, sporadic primary breast tumours, and blood samples from BRCA1/BRCA2 mutation carriers and the general population, were resolved by PCR/cloning followed by sequencing of each individual clone. | NA | {
"id": 8202,
"name": "NCOA3",
"pos": [
195,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
258,
8
]
} |
However, in contrast to previously reported cases with AP4M1 mutations our patients show an aggressive behavior and a relatively late onset of disease. | NA | {
"id": 9179,
"name": "AP4M1",
"pos": [
55,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
92,
19
]
} |
To clarify whether regulatory cytokines inhibit hematopoiesis in patients with myelodysplastic syndromes (MDS), malignancies characterized by the formation of cytopenias despite the presence of cellular bone marrow, expression of TNF-alpha and IFN-gamma by bone marrow cells was investigated using specific reverse transcriptase-polymerase chain reaction assays. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
244,
3
]
} | {
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
79,
25
]
} |
Inhibition of ADO kinase (AK) increases extracellular ADO concentrations and AK inhibitors have demonstrated ADO-mediated anti-inflammatory effects in acute models of inflammation. | NA | {
"id": 84890,
"name": "ADO",
"pos": [
109,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
167,
12
]
} |
Here, we investigated the effects of FKBP12.6 over-expression and gender on Ca(2+)-handling proteins (RyR2, SERCA2a/PLB, and NCX), and on pro-(CaMKII, Cn/NFAT) and anti-hypertrophic (GSK3β) signalling pathways in a thoracic aortic constriction (TAC) mouse model. | NA | {
"id": 151056,
"name": "PLB1",
"pos": [
116,
3
]
} | {
"id": "C1261287",
"name": "Stenosis",
"pos": [
231,
12
]
} |
In vitro cell proliferation, invasion, and transformation were performed in human embryonic kidney cell line (HEK 293), pancreatic cancer cell line MIA PaCa2, and human pancreatic ductal epithelial (HPDE) cells transiently or stably expressing PDX-1 or green fluorescent protein (GFP) PDX-1, with or without cotransfection of PDX-1 short hairpin RNA (shRNA). | NA | {
"id": 2042,
"name": "EPHA3",
"pos": [
110,
3
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
120,
17
]
} |
Our data indicate that this tumor was unlikely to have resulted from mutations in VHL and PBRM1. | genomic_alterations | {
"id": 55193,
"name": "PBRM1",
"pos": [
90,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
28,
5
]
} |
The relative weight of the GRS was lower in magnitude than obesity or prehypertension, but comparable with diabetes mellitus or a positive family history of hypertension. | NA | {
"id": 597,
"name": "BCL2A1",
"pos": [
27,
3
]
} | {
"id": "C1696708",
"name": "Prehypertension",
"pos": [
70,
15
]
} |
We herein present a case of LPL deficiency due to novel combined mutations of glycosylphosphatidylinositol (GPI)-anchored high-density lipoprotein (HDL)-binding protein 1 (GPIHBP1) in a patient with coronary artery disease (CAD). | NA | {
"id": 10007,
"name": "GNPDA1",
"pos": [
108,
3
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
199,
23
]
} |
A 13-AA rat peptide induced EAG with proteinuria, decreased renal function, and glomerular basement membrane (GBM)-bound deposits in half of the rats. | NA | {
"id": 3756,
"name": "KCNH1",
"pos": [
28,
3
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
37,
11
]
} |
Cholesteryl ester transfer protein corrects dysfunctional high density lipoproteins and reduces aortic atherosclerosis in lecithin cholesterol acyltransferase transgenic mice. | biomarker | {
"id": 1071,
"name": "CETP",
"pos": [
0,
34
]
} | {
"id": "C0155733",
"name": "Atherosclerosis of aorta",
"pos": [
96,
22
]
} |
RN486, a selective Bruton's tyrosine kinase inhibitor, abrogates immune hypersensitivity responses and arthritis in rodents. | therapeutic | {
"id": 695,
"name": "BTK",
"pos": [
15,
24
]
} | {
"id": "C0002792",
"name": "anaphylaxis",
"pos": [
103,
9
]
} |
The DNA distribution pattern was classified as diploid, low grade aneuploid (LGA), and high grade aneuploid (HGA) pattern. | NA | {
"id": 27165,
"name": "GLS2",
"pos": [
77,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
98,
9
]
} |
Also, the MDR1 3435 TT genotype was significantly associated with a higher degree of atrophy and intestinal metaplasia in the same generation (atrophy, TT vs. C carrier: p=0.038, intestinal metaplasia, TT vs. C carrier: p=0.016). | NA | {
"id": 5243,
"name": "ABCB1",
"pos": [
10,
4
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
143,
7
]
} |
Ablation of CaMKKβ or SIRT1 in mice with an apolipoprotein E-null background showed increased atherosclerosis both in athero-prone and in athero-protective areas. | biomarker | {
"id": 10645,
"name": "CAMKK2",
"pos": [
12,
6
]
} | {
"id": "C0003850",
"name": "Arteriosclerosis",
"pos": [
94,
15
]
} |
Intrathecal injection of CXCL13 was sufficient to induce pain hypersensitivity and astrocyte activation via CXCR5 and ERK. | NA | {
"id": 10563,
"name": "CXCL13",
"pos": [
25,
6
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
62,
16
]
} |
Bone marrow transplantation or infusion of wild-type EPC restored blood flow recovery and prevented autoamputation in Per2(m/m) mice. | NA | {
"id": 8864,
"name": "PER2",
"pos": [
118,
4
]
} | {
"id": "C1833222",
"name": "Autoamputation",
"pos": [
100,
14
]
} |
We investigated in adult Caucasians (N = 749) whether this FAAH variant altered the risk for trying, regular use of or dependence on cannabis, alcohol or nicotine, traditional "gateway" drugs. | NA | {
"id": 79152,
"name": "FA2H",
"pos": [
59,
4
]
} | {
"id": "C0024809",
"name": "Marijuana Abuse",
"pos": [
133,
8
]
} |
The aim of this study was to estimate the relationship of glutathione S-transferases (GST)P1, GSTA1, GSTM1, and GSTT1 gene polymorphisms to oral cancer risk. | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
112,
5
]
} | {
"id": "C0220641",
"name": "Lip and Oral Cavity Carcinoma",
"pos": [
140,
11
]
} |
%DLCO/VA was significantly (P < 0.05) lower than in the no diabetic retinopathy (NDR) and simple diabetic retinopathy (SDR) groups. | NA | {
"id": 8436,
"name": "CAVIN2",
"pos": [
119,
3
]
} | {
"id": "C0011884",
"name": "Diabetic Retinopathy",
"pos": [
97,
20
]
} |
The present study suggested that miR-9 may function as a promising tumor inhibitor for ovarian cancer through targeting the SDF-1/CXCR4 pathway. | biomarker | {
"id": 6387,
"name": "CXCL12",
"pos": [
124,
5
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
87,
14
]
} |
In the present study, we demonstrated that these miR-138-induced changes were accompanied by marked reduction in E-cad (E-cadherin) expression and enhanced Vim (vimentin) expression, characteristics of EMT (epithelial-mesenchymal transition). | NA | {
"id": 3702,
"name": "ITK",
"pos": [
202,
3
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
115,
3
]
} |
Here, FAF1 was only reduced in 16% of the carcinomas when compared to non-neoplastic colorectal mucosa. | NA | {
"id": 11124,
"name": "FAF1",
"pos": [
6,
4
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
70,
14
]
} |
Moreover, glandular epithelia from DAB2IP(-/-) animal exhibited hyperplasia and apoptotic defect. | NA | {
"id": 153090,
"name": "DAB2IP",
"pos": [
35,
6
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
64,
11
]
} |
CCRK mRNA was elevated at least 1.5-fold and as much as 3.7-fold in 14 (74%) of 19 high-grade glioblastoma multiforme patient samples and in four (80%) of five glioma cell lines examined compared with normal brain tissue. | NA | {
"id": 23552,
"name": "CDK20",
"pos": [
0,
4
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
160,
6
]
} |
A critical approach of the major advances in research of GST, underlining the new advances of GST genes polymorphisms in cancer susceptibility and target for therapeutic intervention. | genomic_alterations | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
94,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
121,
6
]
} |
A dual agonist of farnesoid X receptor (FXR) and the G protein-coupled receptor TGR5, INT-767, reverses age-related kidney disease in mice. | genomic_alterations | {
"id": 9170,
"name": "LPAR2",
"pos": [
53,
26
]
} | {
"id": "C0022658",
"name": "Kidney Diseases",
"pos": [
116,
14
]
} |
We have previously reported that increased aggressive behavior in schizophrenic patients may be associated with a polymorphism at codon 158 of the catechol O-methyltransferase (COMT) gene that encodes a low enzyme activity variant. | NA | {
"id": 1312,
"name": "COMT",
"pos": [
177,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
43,
19
]
} |
We have previously demonstrated an association of the human leukocyte antigen (HLA), HLA-A2 allele with ovarian and prostate cancer mortality as well as a segregation of the ancestral HLA haplotype (AHH) 62.1 [(A2) B15 Cw3 DRB1*04] in patients with stage III-IV serous ovarian cancer. | biomarker | {
"id": 129831,
"name": "RBM45",
"pos": [
223,
4
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
269,
14
]
} |
Some of these aberrations of chromosome 12 are not specific for particular tumor entities but can occur in a variety of tumors with HMGIC abnormalities. | NA | {
"id": 8091,
"name": "HMGA2",
"pos": [
132,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
138,
13
]
} |
P53 positivity was also related to other indicators of aggressiveness including size of primary tumor, nuclear and nucleolar size, and estrogen and progesterone receptor content, but relationships between p53 and vascular invasion and lymph node metastasis were not found. | NA | {
"id": 5241,
"name": "PGR",
"pos": [
148,
21
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
55,
14
]
} |
In the case of BRAF-V600E mutant melanoma, ERK inhibition has emerged as a viable clinical approach to abrogate signaling through the ERK pathway, even in cases where MEK and Raf inhibitor treatments fail to induce tumor regression due to resistance mechanisms. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
15,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
215,
5
]
} |
Our results suggest that synovial fibroblasts may significantly contribute to bone resorption through modulation of RANKL and OPG production in a cytokine-rich milieu of inflamed joints. | NA | {
"id": 690,
"name": "BTF3P11",
"pos": [
126,
3
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
78,
15
]
} |
Primary eosinophilic disorders include hypereosinophilic syndrome (HES); chronic eosinophilic leukemia, not otherwise categorized (CEL-NOC); platelet-derived growth factor receptor (PDGFR)-rearranged myeloid neoplasms; and other myeloid malignancies associated with prominent blood eosinophilia. | NA | {
"id": 25819,
"name": "NOCT",
"pos": [
135,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
237,
12
]
} |
The older patients demonstrated advanced foveal atrophy and punched-out foveal hypofluorescence with discrete borders on FAF imaging corresponding to the area of outer retinal cavitation on OCT. Foveal hyperfluorescence is an early sign of achromatopsia that can aid in clinical diagnosis. | NA | {
"id": 2188,
"name": "FANCF",
"pos": [
121,
3
]
} | {
"id": "C0152200",
"name": "Achromatopsia",
"pos": [
240,
13
]
} |
LDE225, a distinct, selective antagonist of SMO, showed potent inhibition of basaloid tumor nest formation and mediated regression of preformed basaloid tumors in organ cultures of skin derived from Ptch1 heterozygous knockout mice. | NA | {
"id": 6608,
"name": "SMO",
"pos": [
44,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
120,
10
]
} |
Recently, suppressor of cytokine signaling-3 (SOCS3) has been shown to be an inducible endogenous negative regulator of Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway which is relevant in inflammatory response, while its functions in acute liver failure and HBV-induced acute-on-chronic liver failure (HBV-ACLF) have not been fully elucidated. | NA | {
"id": 9021,
"name": "SOCS3",
"pos": [
46,
5
]
} | {
"id": "C0162557",
"name": "Liver Failure, Acute",
"pos": [
270,
19
]
} |
We performed fluorescence in situ hybridisations (FISH) and polymerase chain reaction (PCR) analyses in 12 patients with 10p deletions, nine of them with features of DGS, and in a familial translocation 10p;14q associated with midline defects. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
50,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
189,
13
]
} |
Beta-globin haplotypes associated with milder disease had significantly higher hemoglobin and %HbF. | NA | {
"id": 3043,
"name": "HBB",
"pos": [
0,
11
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
79,
10
]
} |
The aim of this study was to investigate the inflammatory cytokines secreted by tumor-associated dendritic cells (TADCs) that contribute to enhanced migration, invasion, and epithelial-to-mesenchymal transition (EMT) in colon cancer. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
212,
3
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
220,
12
]
} |
Our results showed that CAG repeat polymorphism in AR gene may act as a risk modifier and GSTM1 null genotypes also may be contributed to prostate cancer susceptibility in Iranian patients. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
90,
5
]
} | {
"id": "C3469524",
"name": "PROSTATE CANCER, SUSCEPTIBILITY TO",
"pos": [
138,
30
]
} |
Several important candidate genes like human leucocyte antigen/alleles and non-human leucocyte antigen genes, such as cytokines and their receptors, chemokines and their receptors, pattern recognition receptors (including toll-like receptors, mannose binding lectin and the dendritic cell-specific intercellular adhesion molecule-3 grabbing nonintegrin), solute carrier family 11A member 1 (formerly known as natural resistance-associated macrophage protein 1) and purinergic P2X7 receptor gene polymorphisms, have been associated with differential susceptibility to TB in various ethnic populations. | genomic_alterations | {
"id": 3385,
"name": "ICAM3",
"pos": [
298,
33
]
} | {
"id": "C0041296",
"name": "Tuberculosis",
"pos": [
567,
2
]
} |
s-FKN is shed from ECs following hypoxia/reoxygenation and acts through CX3CR1 on ECs to increase ICAM-1 expression and promote neutrophil adhesion through activation of the Jak-Stat5 pathway. | NA | {
"id": 1524,
"name": "CX3CR1",
"pos": [
72,
6
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
139,
8
]
} |
The 17.49-Mb duplication of 2p16.1-p22.1 was found in a 17-year-old girl with moderate mental retardation, behavioral and emotional problems, anxiety, and facial dysmorphic features. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
35,
3
]
} | {
"id": "C0677660",
"name": "Emotional problems",
"pos": [
122,
18
]
} |
These results suggest that inhibition of autophagy by Beclin 1 knockdown can attenuate the secondary thalamic damage after focal cerebral infarction. | NA | {
"id": 8678,
"name": "BECN1",
"pos": [
54,
8
]
} | {
"id": "C0007785",
"name": "Cerebral Infarction",
"pos": [
129,
19
]
} |
Pharmacogenetic analysis of the effects of polymorphisms in APOE, IDE and IL1B on a ketone body based therapeutic on cognition in mild to moderate Alzheimer's disease; a randomized, double-blind, placebo-controlled study. | NA | {
"id": 3416,
"name": "IDE",
"pos": [
66,
3
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
189,
5
]
} |
Cloning and sequence analysis of the human acidic fibroblast growth factor gene and its preservation in leukemia patients. | genomic_alterations | {
"id": 2246,
"name": "FGF1",
"pos": [
43,
31
]
} | {
"id": "C1332977",
"name": "Childhood Leukemia",
"pos": [
104,
8
]
} |
We performed multivariate regression to determine which biomarkers were associated with and/or predictive of CD4(+) T cell recovery. | NA | {
"id": 920,
"name": "CD4",
"pos": [
109,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
26,
10
]
} |
Loss of the TEL/ETV6 gene by a second translocation in ALL patients with t(12;21). | NA | {
"id": 2120,
"name": "ETV6",
"pos": [
16,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
38,
13
]
} |
gC1qR/p33 serves as a molecular bridge between the complement and contact activation systems and is an important catalyst in inflammation. | NA | {
"id": 3621,
"name": "ING1",
"pos": [
6,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
125,
12
]
} |
In a HFD model, DPP4-rats exhibited reduced adipose tissue inflammation and improved insulin resistance, which may be mediated in part by GIP induction of adiponectin. | NA | {
"id": 1803,
"name": "DPP4",
"pos": [
16,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
59,
12
]
} |
We have also observed similar pattern of expression of Pitx1 and -3 in hypothyroid and T(3)-supplemented ovaries. | NA | {
"id": 5307,
"name": "PITX1",
"pos": [
55,
5
]
} | {
"id": "C0020676",
"name": "Hypothyroidism",
"pos": [
71,
11
]
} |
Conditionally-replicating adenovirus (CRAd) therapy is currently being tested against pancreatic cancer and has shown some promise. | NA | {
"id": 57482,
"name": "CRACD",
"pos": [
38,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
26,
10
]
} |
Microsatellite alterations were studied involving microsatellite instability (MSI) and loss of heterozygosity (LOH) at tumour suppressor loci, representative of the mutator pathway and the suppressor pathway, respectively, as well as mutations of target genes (TGF-beta RII, BAX, hMSH3, and E2F-4). | NA | {
"id": 1874,
"name": "E2F4",
"pos": [
291,
5
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
50,
26
]
} |
Dermal macrophages were increased in psoriasis compared with normal skin and were identified by CD163, RFD7, CD68, lysosomal-associated membrane protein 2 (LAMP2), stabilin-1, and macrophage receptor with collagenous structure (MARCO). | NA | {
"id": 8685,
"name": "MARCO",
"pos": [
228,
5
]
} | {
"id": "C0033860",
"name": "Psoriasis",
"pos": [
37,
9
]
} |
We also show here another rearrangement of the RhoH/TTF gene in a patient with multiple myeloma and t(4;14)(p13;q32) translocation, with breakage within the IGH gene. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
108,
3
]
} | {
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
79,
16
]
} |
Although relevant literature has reported on gankyrin functions in cellular proliferation and tumorigenesis, the exact role of gankyrin is poorly understood in animal model systems. | NA | {
"id": 5716,
"name": "PSMD10",
"pos": [
128,
8
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
95,
13
]
} |
We demonstrate the presence of EWS/FLI-1 hybrid transcripts also in giant-cell tumor, a bone neoplasm featuring intermediate characteristics between benign and malignant lesions. | NA | {
"id": 2314,
"name": "FLII",
"pos": [
35,
3
]
} | {
"id": "C0005967",
"name": "Bone neoplasms",
"pos": [
88,
13
]
} |
HGF is a rare oral condition characterized by a slow, progressive enlargement of the gingiva, involving both the maxilla and mandible. | NA | {
"id": 3082,
"name": "HGF",
"pos": [
0,
3
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
66,
11
]
} |
This cell line expressed both TRK-A and TRK-B receptors, which is rare in a single NB cell line. | biomarker | {
"id": 4915,
"name": "NTRK2",
"pos": [
40,
5
]
} | {
"id": "C0700095",
"name": "Central neuroblastoma",
"pos": [
83,
2
]
} |
Flies expressing the most common Parkinson disease (PD)-related mutation, LRRK2-G2019S, in their dopaminergic neurons show loss of visual function and degeneration of the retina, including mitochondrial abnormalities, apoptosis and autophagy. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
74,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
33,
17
]
} |
An international prospective cohort of children with suspected IBD will be screened with the existing FC stool test and the new S100A12 stool test. | genomic_alterations | {
"id": 6283,
"name": "S100A12",
"pos": [
128,
7
]
} | {
"id": "C0021390",
"name": "Inflammatory Bowel Diseases",
"pos": [
63,
3
]
} |
Both cell lines were stimulated with Angiotensin II and Angiotensin II receptor type 1 (At(1)R) blocker Candesartan, and gene expression of vascular endothelial growth factor (VEGF), Angiopoietin 1 and 2 (Ang-1 and Ang-2), tissue inhibitor of matrix metalloproteinases 1 (TIMP-1), and hypoxia inducible transcription factor 2alpha (HIF-2alpha) were quantified by TaqMan-Real-Time PCR analysis. | NA | {
"id": 183,
"name": "AGT",
"pos": [
37,
14
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
285,
7
]
} |
MicroRNA-219-5p exerts tumor suppressor function by targeting ROBO1 in glioblastoma. | biomarker | {
"id": 6091,
"name": "ROBO1",
"pos": [
62,
5
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
71,
12
]
} |
Co-modification of IL-2-TNF alpha fusion gene and B7.1 gene to murine breast tumor cells leads to improved tumor rejection and vaccine effect. | NA | {
"id": 941,
"name": "CD80",
"pos": [
50,
4
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
70,
12
]
} |
Thus, KCa3.1 may be a potential target for the treatment of EGF-induced corneal angiogenesis. | NA | {
"id": 3783,
"name": "KCNN4",
"pos": [
6,
6
]
} | {
"id": "C0085109",
"name": "Corneal Neovascularization",
"pos": [
72,
20
]
} |
MiR-107 suppresses the metastasis of colorectal cancer and could be a potential therapy target in colorectal cancer patients. | biomarker | {
"id": 406901,
"name": "MIR107",
"pos": [
0,
7
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
23,
10
]
} |
Recent studies reported significant association of polymorphisms in the TCF4 (transcription factor 4) gene, and a borderline association of PTPRG (protein tyrosine phosphatase, receptor type, G) variants with late-onset FED in Caucasians from the United States. | genomic_alterations | {
"id": 5793,
"name": "PTPRG",
"pos": [
140,
5
]
} | {
"id": "C0342895",
"name": "Fish-Eye Disease",
"pos": [
220,
3
]
} |
The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
105,
3
]
} | {
"id": "C1853241",
"name": "Flat face",
"pos": [
237,
9
]
} |
The abnormalities observed with decreasing frequency were abnormal TBUT (379 patients, 79.5%, 751 eyes), abnormal Schirmer test (320 patients, 67%, 635 eyes), DAI (183 patients, 38.4%, 350 eyes), DAL (157 patients, 32.9%, 308 eyes), scalloped iris (133 patients, 27.9%, 238 eyes), glaucoma (97 patients, 20%, 165 eyes), vitreous amyloidosis (83 patients, 17.4%, 139 eyes), ACV (68 patients, 14%, 136 eyes) and amyloidotic retinal angiopathy (21 patients, 4%, 32 eyes). | NA | {
"id": 81030,
"name": "ZBP1",
"pos": [
159,
3
]
} | {
"id": "C0017601",
"name": "Glaucoma",
"pos": [
281,
8
]
} |
Overexpression of CYR61, CTGF, WISP-1, and NOV occurred in 48% (32 of 66), 58% (38 of 66), 36% (24 of 66), and 15% (10 of 66) of primary gliomas, respectively. | NA | {
"id": 4856,
"name": "CCN3",
"pos": [
43,
3
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
137,
7
]
} |
Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction. | NA | {
"id": 4774,
"name": "NFIA",
"pos": [
150,
4
]
} | {
"id": "C4025825",
"name": "Abnormal external genitalia",
"pos": [
222,
27
]
} |
This suggests that p16(INK4a) gene inactivation does not have an important role in the pathogenesis of sporadic colorectal cancer. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
23,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
103,
8
]
} |
XRCC5, PTCH2, eEF1A2 and PPP1R14B were significantly overexpressed in OCCC and associated endometriosis, but not in benign endometriosis (p ⩽ 0.004). | NA | {
"id": 1917,
"name": "EEF1A2",
"pos": [
14,
6
]
} | {
"id": "C0014175",
"name": "Endometriosis",
"pos": [
123,
13
]
} |
The endocardial expression of CD40, the release of CD40L, and adhesion of platelets to endocardium. | NA | {
"id": 958,
"name": "CD40",
"pos": [
30,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
62,
8
]
} |
The succinate dehydrogenase (SDH) complex exerts a fundamental role in mitochondrial cellular respiration and mutations in its encoding genes (SDHA, SDHB, SDHC, SDHD, collectively referred to as SDHx) lead to a number of inherited endocrine cancer predisposition syndromes, including familial paraganglioma/pheochromocytoma. | NA | {
"id": 6389,
"name": "SDHA",
"pos": [
143,
4
]
} | {
"id": "C1704374",
"name": "Carcinoma of Endocrine Gland",
"pos": [
231,
16
]
} |
HGF and chemical hypoxia with CoCl2 cooperatively promoted in vitro invasion and vascular endothelial growth factor (VEGF) secretion, while CoCl2 but not HGF activated urokinase-type plasminogen activator and matrix metalloproteinase 2, both of which promote invasion and angiogenesis. | NA | {
"id": 4313,
"name": "MMP2",
"pos": [
209,
26
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
17,
7
]
} |
PBK/TOPK enhances aggressive phenotype in prostate cancer via β-catenin-TCF/LEF-mediated matrix metalloproteinases production and invasion. | biomarker | {
"id": 3172,
"name": "HNF4A",
"pos": [
72,
3
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
130,
8
]
} |
To investigate the effects of simvastatin (SIM) on in vivo and in vitro cardiac hypertrophy models and changes on JAK/STAT signal pathways. | NA | {
"id": 6493,
"name": "SIM2",
"pos": [
43,
3
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
72,
19
]
} |
In myelin protein zero-deficient mice (P0 -/-), we found alterations similar to those found in Pmp22 -/- mice, whereas P0 +/- mice developed mildly increased sciatic nerve F-wave latencies only late in life, which indicates only mild dysmyelination. | NA | {
"id": 4359,
"name": "MPZ",
"pos": [
3,
19
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
234,
14
]
} |
Mutational analysis of the bFGF transcript and gene by denaturing gradient gel electrophoresis and Southern analysis did not, however, reveal abnormalities in the coding sequence of this gene in RCS rats. | NA | {
"id": 10777,
"name": "ARPP21",
"pos": [
195,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
142,
13
]
} |
TUNEL staining was used to analyze the cytotoxicity of TNFalpha treatment or TNFalpha combined with either the Akt activity inhibitor wortmannin, an adenovirus expressing dominant-negative mutant (AdAkt-DN), or an adenovirus expressing phosphatase and tensin homolog deleted on chromosome 10 (AdPTEN). | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
236,
55
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
214,
10
]
} |
We primarily found that acute alcohol binging reduced gene expression (Hdac1-10) in the peripheral blood of alcohol-naïve rats and that this effect was attenuated following repeated alcohol binges. | NA | {
"id": 3065,
"name": "HDAC1",
"pos": [
71,
5
]
} | {
"id": "C0596170",
"name": "Binge eating disorder",
"pos": [
38,
7
]
} |
Tumors with a hypoxic component, including human Y79 retinoblastoma cells, express a specific gap junction protein, Connexin 46 (Cx46), which is usually only found in naturally hypoxic tissues such as the differentiated lens. | NA | {
"id": 2700,
"name": "GJA3",
"pos": [
129,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
177,
7
]
} |
CONCLUSION: The anti-inflammatory effects of Slit2 in human placenta is a novel finding, and suggests that inflammatory mediators, which are increased with obesity, downregulates Slit2 to enhance placental inflammation. | NA | {
"id": 9353,
"name": "SLIT2",
"pos": [
179,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
206,
12
]
} |
Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities. | NA | {
"id": 55143,
"name": "CDCA8",
"pos": [
29,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
160,
13
]
} |
Hmga2 is dispensable for pancreatic cancer development, metastasis, and therapy resistance. | biomarker | {
"id": 8091,
"name": "HMGA2",
"pos": [
0,
5
]
} | {
"id": "C0346647",
"name": "Malignant neoplasm of pancreas",
"pos": [
25,
17
]
} |
There were no differences in age, blood pressure, retinopathy grade, presence of proteinuria, or resting plasma renin activity (PRA) among the hypertensive patients with the II, ID, and DD genotypes. | NA | {
"id": 6277,
"name": "S100A6",
"pos": [
128,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
34,
14
]
} |
Although TGF-beta plays a crucial role in airway remodeling, it is only marginally induced in CD4(+) T cells in the early allergen-dependent activation of the immune system. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
9,
8
]
} | {
"id": "C2717792",
"name": "Airway Remodeling",
"pos": [
42,
17
]
} |
Chondrodysplasia Grebe type (CGT) is an autosomal recessive disorder characterized by severe limb shortening and dysmorphogenesis. | NA | {
"id": 7368,
"name": "UGT8",
"pos": [
29,
3
]
} | {
"id": "C1835446",
"name": "Severe limb shortening",
"pos": [
86,
22
]
} |
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